Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5188 | 15787;15788;15789 | chr2:178733827;178733826;178733825 | chr2:179598554;179598553;179598552 |
| N2AB | 4871 | 14836;14837;14838 | chr2:178733827;178733826;178733825 | chr2:179598554;179598553;179598552 |
| N2A | 3944 | 12055;12056;12057 | chr2:178733827;178733826;178733825 | chr2:179598554;179598553;179598552 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/K | rs886038908  |
0.061 | 0.997 | D | 0.45 | 0.351 | 0.371718192555 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| Q/K | rs886038908 |
0.061 | 0.997 | D | 0.45 | 0.351 | 0.371718192555 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| Q/K | rs886038908 |
0.061 | 0.997 | D | 0.45 | 0.351 | 0.371718192555 | gnomAD-4.0.0 | 5.57778E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.22886E-05 | None | 0 | 0 | 6.78143E-06 | 0 | 0 |
| Q/P | rs72648930 |
-0.001 | 0.999 | N | 0.732 | 0.561 | None | gnomAD-2.1.1 | 1.00032E-03 | None | None | None | None | I | None | 4.54658E-04 | 2.83E-05 | None | 9.68E-05 | 0 | None | 0 | None | 1.60013E-04 | 1.99421E-03 | 1.12549E-03 |
| Q/P | rs72648930 |
-0.001 | 0.999 | N | 0.732 | 0.561 | None | gnomAD-3.1.2 | 1.05818E-03 | None | None | None | None | I | None | 3.13631E-04 | 1.31062E-04 | 1.09649E-03 | 0 | 0 | None | 9.41E-05 | 0 | 2.10251E-03 | 2.07125E-04 | 0 |
| Q/P | rs72648930 |
-0.001 | 0.999 | N | 0.732 | 0.561 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| Q/P | rs72648930 |
-0.001 | 0.999 | N | 0.732 | 0.561 | None | gnomAD-4.0.0 | 1.73762E-03 | None | None | None | None | I | None | 3.19829E-04 | 5.00067E-05 | None | 3.37883E-05 | 0 | None | 1.09348E-04 | 0 | 2.30229E-03 | 3.29439E-05 | 7.84326E-04 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.277 | likely_benign | 0.3523 | ambiguous | -0.695 | Destabilizing | 0.997 | D | 0.514 | neutral | None | None | None | None | I |
| Q/C | 0.6815 | likely_pathogenic | 0.7885 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| Q/D | 0.4521 | ambiguous | 0.5743 | pathogenic | -0.642 | Destabilizing | 0.997 | D | 0.498 | neutral | None | None | None | None | I |
| Q/E | 0.079 | likely_benign | 0.0887 | benign | -0.511 | Destabilizing | 0.992 | D | 0.381 | neutral | N | 0.505152491 | None | None | I |
| Q/F | 0.7053 | likely_pathogenic | 0.7999 | pathogenic | -0.211 | Destabilizing | 0.999 | D | 0.754 | deleterious | None | None | None | None | I |
| Q/G | 0.335 | likely_benign | 0.4415 | ambiguous | -1.091 | Destabilizing | 0.997 | D | 0.627 | neutral | None | None | None | None | I |
| Q/H | 0.2096 | likely_benign | 0.2749 | benign | -0.852 | Destabilizing | 0.999 | D | 0.641 | neutral | D | 0.572158762 | None | None | I |
| Q/I | 0.4305 | ambiguous | 0.5326 | ambiguous | 0.335 | Stabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | I |
| Q/K | 0.1055 | likely_benign | 0.1261 | benign | -0.405 | Destabilizing | 0.997 | D | 0.45 | neutral | D | 0.526268171 | None | None | I |
| Q/L | 0.1681 | likely_benign | 0.2164 | benign | 0.335 | Stabilizing | 0.997 | D | 0.627 | neutral | N | 0.513098491 | None | None | I |
| Q/M | 0.4332 | ambiguous | 0.5112 | ambiguous | 0.699 | Stabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | I |
| Q/N | 0.3463 | ambiguous | 0.4514 | ambiguous | -0.984 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | I |
| Q/P | 0.3901 | ambiguous | 0.5432 | ambiguous | 0.024 | Stabilizing | 0.999 | D | 0.732 | prob.delet. | N | 0.511504695 | None | None | I |
| Q/R | 0.1098 | likely_benign | 0.128 | benign | -0.395 | Destabilizing | 0.997 | D | 0.488 | neutral | N | 0.504035804 | None | None | I |
| Q/S | 0.2849 | likely_benign | 0.3651 | ambiguous | -1.119 | Destabilizing | 0.997 | D | 0.456 | neutral | None | None | None | None | I |
| Q/T | 0.2133 | likely_benign | 0.2684 | benign | -0.784 | Destabilizing | 0.999 | D | 0.675 | neutral | None | None | None | None | I |
| Q/V | 0.2822 | likely_benign | 0.3535 | ambiguous | 0.024 | Stabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | I |
| Q/W | 0.5604 | ambiguous | 0.68 | pathogenic | -0.075 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| Q/Y | 0.47 | ambiguous | 0.5846 | pathogenic | 0.142 | Stabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | I |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.